Annotation Detail

Information
Associated Genes
IL23R
Associated Variants
IL23R p.Leu310Pro (p.L310P) ( ENST00000697154.1, ENST00000371007.6, ENST00000347310.10, ENST00000425614.3, ENST00000697165.1, ENST00000697164.1, ENST00000697230.1, ENST00000697163.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
IL23R p.Leu310Pro (p.L310P) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
The aim of this study was to determine whether the specific rs11209026 and rs7530511 single-nucleotide polymorphisms in the Interleukin-23 receptor gene are associated with Crohn's disease and ulcerative colitis in a Croatian patient population.
Pubmed
24611330
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.326936272243952
Year of publication
2014
Drugs